Clinical and Cytogenomic Characterization of De Novo 11p14.3-p15.5 Duplication Associated with 18q23 Deletion in an Egyptian Female Infant

Paternal microduplication of 11p14.3-p15.5 causes the clinical manifestations of Beckwith–Wiedemann syndrome (BWS), while microdeletion of 18q23-ter is clinically characterized by short stature, congenital malformations, and developmental delay. We describe a 15-month-old girl presenting with protru...

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Vydáno v:J Pediatr Genet
Hlavní autoři: Afifi, Hanan H., El-Kamah, Ghada Y., Kamel, Alaa K., Abd Allah, Sally G., Hammad, Sayda, Sayed-Ahmed, Mohammed M., Hussein, Shymaa H., Mohamed, Amal M.
Médium: Artigo
Jazyk:Inglês
Vydáno: Georg Thieme Verlag KG 2021
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8110358/
https://ncbi.nlm.nih.gov/pubmed/33996184
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0040-1708554
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